Hypohidrotic ectodermal dysplasia
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
Description
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems.
Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Hypohidrotic ectodermal dysplasia is also characterised by several missing teeth (hypodontia) or teeth that are malformed. The teeth that are present erupt from the gums later than usual and are frequently small and pointed.
Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition can include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nostrils (ozena).
Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; X-linked; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Anhidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
CST syndrome
HED
Related patient information and medicines
Patient information leaflet
Problèmes de hanche
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of la hanche problems in children Developmental dysplasia of le hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Luxation
Luxation of artificial hips in the period following la hanche replacement surgery - this is relatively common as the muscles and ligaments around the new joint ball will be stretched and weakened by the surgery. Developmental dysplasia of the hip. It is more... For more information see the separate leaflet called Developmental Dysplasia of le Hip..
Patient information leaflet
Examens physiques pour nouveau-né
This is done to ensure that your baby does not have an enlarged liver or spleen or have any abnormal swell... Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the la hanche joint develops..
Patient information leaflet
Bébés prématurés
...the less your baby weighs and the less time they have been dans le womb, the lower the chance of survival and the higher the risk of complicationsYour baby is considered to have: A faible poids à la naissance if they weigh less than 2500 g (5 lb) A very bas birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if they weigh less.
Patient information leaflet
Douleur articulaire
Qu'est-ce que joint pain (arthralgia). Joint pain is discomfort that arises from any joint. The medical word for douleur articulaire est arthralgia. This... Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient synovitis) which usually resolves within a few weeks but may recur. See the separate prospectus.
Patient information leaflet
Croissance limitée
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). It can be due to literally hundreds of different causes, so the term actually includes many different medical conditions. The cause and type of.
Lectures complémentaires et références
- Hypohidrotic ectodermal dysplasia; MedlinePlus, National Library of Medicine.
- Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Ropke A. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.
- Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Maniere MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.
- Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855.
- Nguyen-Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010. Eur J Med Genet. 2013 May;56(5):236-42. doi: 10.1016/j.ejmg.2013.01.012. Epub 2013 Feb 14.
- Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. J Appl Genet. 2016 Feb;57(1):51-61. doi: 10.1007/s13353-015-0307-4. Epub 2015 Aug 21.
- van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.
- Wisniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002;43(1):97-107.
- Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [updated 2025 Mar 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1112/
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.